Contents

1 Epidemiology
2 Symptoms
3 Diagnosis
4 Treatment
5 See also
6 References
7 External links

People can be genetically susceptible to the series of rare blood cancers

Professor Nick Cross and his team at the University of Southampton have shown that people can be genetically susceptible to the series of rare blood cancers known as myeloproliferative neoplasms (MPNs). His team have identified a particular area of the patient’s DNA which is prone to developing mutations.

Professor Cross discovered that a particular region of chromosome 9 that carries the JAK2 gene is predisposed to acquiring mutations, but only in individuals with a particular genetic makeup. It is likely that this finding will lead to a much better understanding of how the JAK2 gene mutations happen and why they lead to an increased risk of someone developing an MPN.

The team at the laboratory, which is part of the University of Southampton, found that people carrying this mutation-prone region of DNA on chromosome 9, which includes the JAK2 gene, have triple the risk of developing a MPN.

The link is especially strong in polycythaemia vera (PV), one of the main three MPNs. Professor Cross says:  “Our research provides strong evidence that at least half of the cases of PV diagnosed each year are linked to an inherited genetic variant on chromosome 9. Whilst this risk is still very small it nonetheless confirms that individual susceptibility is linked to genetic inheritance. “

Department of Health Announces Blood Disorder Study in Southwestern Pennsylvania

Residents with Polycythemia Vera in Bedford, Blair, Cambria and Somerset Counties Encouraged to Participate

HARRISBURG, Pa., July 2 /PRNewswire-USNewswire/ — The Pennsylvania Department of Health today announced a new, federally-funded study on the blood disorder Polycythemia vera, or PV, in Bedford, Blair, Cambria and Somerset counties.

Residents of these counties who were diagnosed with PV between 2001 and 2008 are eligible to participate in the study and will be compensated.

PV is a blood disorder that causes bone marrow to produce too many red blood cells, resulting in what is commonly referred to as “thick blood.”  People with PV can sometimes be at increased risk for blood clots, heart attack or stroke. However, there are other disorders that also result in an excess of red blood cells. The other disorders are referred to as secondary polycythemia. It may be difficult to distinguish PV from the other disorders.

The purpose of the new study is to evaluate the information the department receives from the Pennsylvania Cancer Registry on people who have been diagnosed with PV. Persons asked to take part in the study are those with PV reported to the state cancer registry as well as those identified by local physician offices.

A 2008 study of PV in Carbon, Luzerne and Schuylkill counties in northeast Pennsylvania found a greater number of PV cases than would ordinarily be expected in the three-county area. However, the investigation also showed that some of the cases reported to the state cancer registry as PV were inaccurate, and some cases of PV had never been reported at all. This problem made it difficult to accurately determine the prevalence of PV in the area. It is important to know whether similar PV diagnosis problems exist in other parts of the state.

The four-county area in the southwestern part of the state was chosen because it shares many similar features with the tri-county area of northeast Pennsylvania; not because there appears to be an excess of PV. The similarities include population size, geography and environment.

To help diagnose PV, patients who agree to participate will be interviewed about their health, medical history and environmental exposures. They will also have a blood sample collected to look for the presence of a genetic marker known as JAK2 in their blood cells. More than 90 percent of patients confirmed with PV have the JAK2 genetic marker in their blood cells. Results of the JAK2 test will be available to the patient and their doctor, but will otherwise be kept confidential.

The Department of Health is working with the University of Pittsburgh Graduate School of Public Health to carry out the study. All PV patients in the four-county area who are listed in the state cancer registry and those identified through area physicians will be contacted by the University of Pittsburgh and asked to take part in the study. A nurse representative from the University of Pittsburgh will visit the participant’s home to administer the survey and collect a blood sample. Knowing the JAK2 marker is present may help a doctor to more carefully monitor a patient’s blood counts.

For more information on PV or the 2008 study of the northeast Pennsylvania tri-county area, visit http://www.atsdr.cdc.gov/sites/polycythemia_vera/index.html.

To learn about the University of Pittsburgh’s upcoming study on PV or to find out about participating in the study, please contact Dr. Paula A. Balogh, FNP, of the University of Pittsburgh Graduate School of Public Health at 412-623-5901 or e-mail pvstudy@pitt.edu.

Media contact: Holli Senior, 717-787-1783

SOURCE Pennsylvania Department of Health

CANCER CLUSTER MONEY IS SAFE
May 7, 2010

The search for answers in a rare cancer cluster will continue. $2.5 million was earmarked to further study the polycythemia vera cancer cluster in Carbon, Schuylkill, and Luzerne Counties. But, sources at the Centers for Disease Control say the agency was considering reprogramming that funding and not using it to study the rare blood cancer. Senator Arlen Specter made sure the important funding will stay where it belongs. Residents feel toxic dump sites are to blame for tainting groundwater and making people sick. Some of the money will be used to test groundwater and air samples for contamination.

My Congressman, Rep. Brad Miller, is the lawmaker who’s been raising hell about shoddy work by ATSDR in general, and particularly about what happened at Camp Lejeune Marine Corps base in North Carolina, where cancer is widespread among former base residents.

Yesterday Miller’s committee requested documents from the Navy and a private contractor out of concerns that they knew about benzene contamination at Camp Lejeune but kept that information under wraps. Here’s a recent news story about that:

http://www.newsobserver.com/2010/03/09/379463/congressional-investigators-seek.html

The private contractor is Baker Environmental, a subsidiary of the Michael Baker Corp. I decided to check out who exactly this Baker is. As it turns out, Baker Environmental holds the contract to provide general assistance to the PA DEP’s Superfund program. It manages the program, does investigation and remediation, and provides engineering studies and remedial designs:

http://www.mbakercorp.com/index.php?option=com_content&task=view&id=1684&Itemid=278

Because of that, I do believe this ongoing Lejeune investigation will be worth watching for the folks back home in PA, and wanted to give you all a heads up.

Senior CDC Official Reassigned

Dr. Howard Frumkin, the embattled director of a little-known but important division of the Centers for Disease Control and Prevention, has been reassigned to a position with less authority, a smaller staff and a lower budget.

Frumkin had led the CDC’s Agency for Toxic Substances and Disease Registry (ATSDR) and the National Center for Environmental Health since 2005. For the past two years he had endured scathing criticism from Congress and the media for ATSDR’s poor handling of public health problems created by the formaldehyde-contaminated trailers that the government provided to Hurricane Katrina victims. The agency, which assesses public health risks posed by environmental hazards, also was criticized for understating the health risks of several other, less-publicized cases.

An internal CDC e-mail sent by Frumkin on Jan. 15 and obtained by ProPublica said he was leaving his position that day and would become a special assistant to the CDC’s director of Climate Change and Public Health. His old job will be temporarily filled by Henry Falk, who led ATSDR from 2003 to 2005.

In the e-mail, Frumkin praised his staff and described more than 20 ATSDR accomplishments during his tenure. They include strengthening the agency’s tobacco laboratory and creating the Climate Change and Public Health program.

A CDC spokesman said Frumkin’s transfer shouldn’t be considered a demotion but rather a change of function and responsibilities that the CDC’s director, Dr. Thomas Frieden, said would benefit both the agency and Dr. Frumkin, who is a recognized expert on climate change. But Frumkin’s authority has been sharply reduced, even though his salary won’t change. Previously, he oversaw two departments with a combined budget of about $264 million and 746 full-time employees. Now he will be an assistant to the director of a new program that has a budget of about $7.5 million, five full-time employees and five contractors, two of whom are part time.

Through a CDC spokesman, Frumkin declined a request to be interviewed for this story.

In 2008, ProPublica reported [1] that Frumkin and others failed to take action after learning that ATSDR botched a study [2] on the trailers provided to Katrina victims. The Federal Emergency Management Agency used the study to assure trailer occupants that the formaldehyde levels weren’t high enough to harm them. ATSDR never corrected FEMA, even though Christopher De Rosa, who led ATSDR’s toxicology and environmental medicine division, repeatedly warned Frumkin that the report didn’t take into account the long-term health consequences of exposure to formaldehyde, like cancer risks.

Frumkin eventually reassigned De Rosa to the newly created position of assistant director for toxicology and risk analysis. De Rosa went from leading a staff of about 70 employees to having none. He has since left the agency and is starting a nonprofit that will consult with communities close to environmental hazards.

The involvement of Frumkin and ATSDR in the formaldehyde debacle was the focus of an April 2008 Congressional hearing held by a subcommittee of the House Science and Technology Committee. A report [3] by the subcommittee’s Democratic majority, released that October, concluded that the failure of ATSDR’s leadership “kept Hurricane Katrina and Rita families living in trailers with elevated levels of formaldehyde…for at least one year longer than necessary.”

About six months after the report came out, the same panel, the Subcommittee on Investigations and Oversight, held another hearing [4] that touched on other problems at ATSDR.

Before that hearing, the Democrats on the subcommittee released a report [5] that revealed other cases in which the agency relied on scientifically flawed data, causing other federal agencies to mislead communities about the dangers of their exposure to hazardous substances.

For example, an ATSDR report about water contamination at Camp Lejeune, a Marine Corps base in North Carolina, said the chemically tainted drinking water didn’t pose an increased cancer risk to residents there. The report was used to deny at least one veteran’s medical benefits for ailments that the veteran believed were related to the contamination.

A month after the subcommittee hearing, ATSDR rescinded [6] some of its findings, saying it didn’t adequately consider the presence of benzene, a carcinogen that it found in the water.

Eight months later, the agency said it would modify another report that was criticized at the hearing, about a bomb testing site in Vieques, Puerto Rico. For decades, the U.S. military used the site to test ammunition that contained depleted uranium and other toxins. In a 2003 report, ATSDR said that heavy metals and explosive compounds found on Vieques weren’t harmful to people living there. But Frumkin decided to take a fresh look at those findings because ATSDR hadn’t thoroughly investigated the site.

Subcommittee investigators acknowledged that Frumkin inherited many of the problems in the report from previous ATSDR directors — the original Vieques and Camp Lejeune reports were both done before Frumkin was named director in 2005. But the investigators said he was aware of the agency’s problems and did little to fix them unless he was under political pressure. A CDC spokesman said that Frumkin’s reassignment had nothing to do with the congressional inquiries.

“Americans should know when their government tells them that they have nothing to worry about from environmental exposure that they really have nothing to worry about,” Rep. Brad Miller, D-N.C., the subcommittee’s chairman, said in a statement to ProPublica regarding Frumkin’s reassignment. “The nation needs ATSDR to do honest, scientifically rigorous work. There are many capable professionals at ATSDR who are committed to doing just that.”

Write to Joaquin Sapien at joaquin.sapien@propublica.org [7].

Media inquiries: 770-488-0700 or atsdrmediainquiries@cdc.gov
ATSDR Web site: www.atsdr.cdc.gov

Note to correspondents: ATSDR staff will be available for a press availability session to discuss the updates of the investigation from 5:30 until 6:00p.m. on Monday, August 25 at Genetti’s Best Western Hotel, located at 1441 N. Church St. in Hazleton. No appointment is needed.

For Immediate Release: August 18, 2008

ATLANTA – The Agency for Toxic Substances and Disease Registry (ATSDR) will hold a public meeting to discuss the final findings of an investigation of the polycythemia vera (PV) cases in Schuylkill, Luzerne, and Carbon counties. The federal public health agency will also outline areas for future research.

The meeting will be held on Monday, August 25 from 7:00 until 9:00 p.m. at Genetti’s Best Western Hotel, located at 1441 N. Church St. in Hazleton.

National experts on PV and representatives from the Pennsylvania Departments of Health (PADOH) and Environmental Protection will participate in the community meeting.

PV is a rare illness that causes the body to make too many red blood cells. In August 2006, PADOH asked ATSDR to help determine the number of PV cases in the tri-county area and to look for possible factors in common among them.

ATSDR, a federal public health agency of the U.S. Department of Health and Human Services, evaluates the human health effects of exposure to hazardous substances.

Members of the press can request an interview with ATSDR staff by calling the NCEH/ATSDR Office of Communication at 770-488-0700. The updates on the investigation will be shared at the press availability session and community meeting on August 25.